142 related articles for article (PubMed ID: 23887221)
1. Abnormal spindle-like microcephaly gene detection in an autosomal recessive microcephalic Saudi patient with attention deficit hyperactivity disorder and mental retardation.
Mahmoud AA; Siddiqui IA
Neurosciences (Riyadh); 2013 Jul; 18(3):278-80. PubMed ID: 23887221
[No Abstract] [Full Text] [Related]
2. Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
Liao C; Fu F; Li R; Yang WQ; Liao HY; Yan JR; Li J; Li SY; Yang X; Li DZ
Eur J Med Genet; 2013 Sep; 56(9):484-9. PubMed ID: 23832105
[TBL] [Abstract][Full Text] [Related]
3. Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.
Hellman-Aharony S; Smirin-Yosef P; Halevy A; Pasmanik-Chor M; Yeheskel A; Har-Zahav A; Maya I; Straussberg R; Dahary D; Haviv A; Shohat M; Basel-Vanagaite L
Pediatr Neurol; 2013 Dec; 49(6):411-416.e1. PubMed ID: 24084144
[TBL] [Abstract][Full Text] [Related]
4. A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Naseer MI; Rasool M; Sogaty S; Chaudhary RA; Mansour HM; Chaudhary AG; Abuzenadah AM; Al-Qahtani MH
Ann Saudi Med; 2017; 37(2):148-153. PubMed ID: 28377545
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
Kousar R; Nawaz H; Khurshid M; Ali G; Khan SU; Mir H; Ayub M; Wali A; Ali N; Jelani M; Basit S; Ahmad W; Ansar M
J Child Neurol; 2010 Jun; 25(6):715-20. PubMed ID: 19808985
[TBL] [Abstract][Full Text] [Related]
6. Ichthyosiform eruption in a patient with Dubowitz syndrome.
Kato T; Komatsu H; Sakakibara A; Tagami H
Pediatr Dermatol; 1995 Jun; 12(2):130-3. PubMed ID: 7659638
[TBL] [Abstract][Full Text] [Related]
7. A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.
Hosseini MM; Tonekaboni SH; Papari E; Bahman I; Behjati F; Kahrizi K; Najmabadi H
J Pak Med Assoc; 2012 Nov; 62(11):1244-7. PubMed ID: 23866422
[TBL] [Abstract][Full Text] [Related]
8. Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs.
Czeizel A; Lowry RB
Acta Paediatr Hung; 1990; 30(3-4):343-9. PubMed ID: 2083096
[TBL] [Abstract][Full Text] [Related]
9. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Rajab A; Yoo SY; Abdulgalil A; Kathiri S; Ahmed R; Mochida GH; Bodell A; Barkovich AJ; Walsh CA
Am J Med Genet A; 2006 Jul; 140(14):1504-10. PubMed ID: 16761294
[TBL] [Abstract][Full Text] [Related]
10. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
Vinkler C; Leshinsky-Silver E; Michelson M; Haas D; Lerman-Sagie T; Lev D
Eur J Med Genet; 2014; 57(6):288-92. PubMed ID: 24709618
[TBL] [Abstract][Full Text] [Related]
11. Autosomal recessive primary microcephalies (MCPH).
Kaindl AM
Eur J Paediatr Neurol; 2014 Jul; 18(4):547-8. PubMed ID: 24780602
[TBL] [Abstract][Full Text] [Related]
12. A possible major contribution to mental retardation in the general population by the gene for microcephaly.
Qazi QH; Reed TE
Clin Genet; 1975 Feb; 7(2):85-90. PubMed ID: 1132165
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI; Rasool M; Jan MM; Chaudhary AG; Pushparaj PN; Abuzenadah AM; Al-Qahtani MH
J Neurol Sci; 2016 Dec; 371():121-125. PubMed ID: 27871432
[TBL] [Abstract][Full Text] [Related]
14. Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
Ariani F; Mari F; Amitrano S; Di Marco C; Artuso R; Scala E; Meloni I; Della Volpe R; Rossi A; van Bokhoven H; Renieri A
Clin Genet; 2013 Mar; 83(3):288-90. PubMed ID: 22823409
[No Abstract] [Full Text] [Related]
15. Autosomal dominant microcephaly without mental retardation.
Rossi LN; Candini G; Scarlatti G; Rossi G; Prina E; Alberti S
Am J Dis Child; 1987 Jun; 141(6):655-9. PubMed ID: 3578190
[TBL] [Abstract][Full Text] [Related]
16. Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.
Roos RA; Maaswinkel-Mooy PD; vd Loo EM; Kanhai HH
Eur J Pediatr; 1987 Sep; 146(5):532-6. PubMed ID: 3678281
[TBL] [Abstract][Full Text] [Related]
17. Cohen syndrome diagnosis using whole genome arrays.
Rivera-Brugués N; Albrecht B; Wieczorek D; Schmidt H; Keller T; Göhring I; Ekici AB; Tzschach A; Garshasbi M; Franke K; Klopp N; Wichmann HE; Meitinger T; Strom TM; Hempel M
J Med Genet; 2011 Feb; 48(2):136-40. PubMed ID: 20921020
[TBL] [Abstract][Full Text] [Related]
18. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.
Neitzel H; Neumann LM; Schindler D; Wirges A; Tönnies H; Trimborn M; Krebsova A; Richter R; Sperling K
Am J Hum Genet; 2002 Apr; 70(4):1015-22. PubMed ID: 11857108
[TBL] [Abstract][Full Text] [Related]
19. [Microcephalic children without mental retardation].
Przytycki A; Burgin R
Harefuah; 1992 May; 122(9):566-8, 615. PubMed ID: 1382036
[TBL] [Abstract][Full Text] [Related]
20. Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?
Kondoh T; Yamamoto T; Kono Y; Matsumoto T; Sugawara H; Matsumoto N; Moriuchi H
Am J Med Genet; 2001 Jul; 102(1):63-7. PubMed ID: 11471174
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]